MGP Database

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MGP003724

UniProt Annotations

Entry Information
Gene NameST3 beta-galactoside alpha-2,3-sialyltransferase 5
Protein EntrySIAT9_HUMAN
UniProt IDQ9UNP4
SpeciesHuman
Comments
Comment typeDescription
Alternative ProductsEvent=Alternative splicing; Named isoforms=3; Name=1; IsoId=Q9UNP4-1; Sequence=Displayed; Name=2; IsoId=Q9UNP4-2; Sequence=VSP_033686; Name=3; IsoId=Q9UNP4-3; Sequence=VSP_033687, VSP_033688;
Catalytic ActivityCMP-N-acetylneuraminate + beta-D-galactosyl- (1->4)-beta-D-glucosyl-(1<->1)-ceramide = CMP + alpha-N- acetylneuraminyl-(2->3)-beta-D-galactosyl-(1->4)-beta-D-glucosyl- (1<->1)-ceramide.
DiseaseAmish infantile epilepsy syndrome (AIES) [MIM:609056]: An autosomal recessive, infantile-onset symptomatic epilepsy associated with developmental stagnation and blindness. {ECO:0000269|PubMed:15502825}. Note=The disease is caused by mutations affecting the gene represented in this entry.
FunctionCatalyzes the formation of ganglioside GM3 (alpha-N- acetylneuraminyl-2,3-beta-D-galactosyl-1, 4-beta-D- glucosylceramide). {ECO:0000269|PubMed:16934889}.
PtmN-glycosylated. {ECO:0000269|PubMed:16934889}.
Sequence CautionSequence=AAD14634.1; Type=Erroneous initiation; Evidence={ECO:0000305}; Sequence=AAF66146.1; Type=Erroneous initiation; Evidence={ECO:0000305}; Sequence=AAQ89463.1; Type=Erroneous initiation; Evidence={ECO:0000305}; Sequence=AAY24147.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305}; Sequence=BAA33950.1; Type=Erroneous initiation; Evidence={ECO:0000305};
SimilarityBelongs to the glycosyltransferase 29 family. {ECO:0000305}.
Subcellular LocationGolgi apparatus membrane {ECO:0000305}; Single-pass type II membrane protein {ECO:0000305}.
Tissue SpecificityUbiquitous. High expression in brain, skeletal muscle, placenta, and testis.
Web ResourceName=Functional Glycomics Gateway - GTase; Note=ST3Gal V; URL="http://www.functionalglycomics.org/glycomics/molecule/jsp/glycoEnzyme/viewGlycoEnzyme.jsp?gbpId=gt_hum_626";
Web ResourceName=GGDB; Note=GlycoGene database; URL="http://jcggdb.jp/rcmg/ggdb/Homolog?cat=symbol&symbol=ST3GAL5";
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